| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RPH3AL_chr17_207389_357807 | 304067 | A | AGCAGTGA others(752): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0054 | 1 | 133 | 0.0075 | 759 | c.351 others(778): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80963449 | C | CTGCGGCC others(752): Show |
intron_variant | MODIFIER | HG01258.hp2 NA20805.hp2 |
a0001 | a0001c0032a0001c0033 | a0001c0032t0097a0001c0033t0098 | a0001c0032t0097g0053a0001c0033t0098g0026 | 2 | 196 | 0.0102 | 759 | c.393 others(776): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 33/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934525 | G | GCGTTACA others(752): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0025 | a0025c0045 | a0025c0045t0003 | a0025c0045t0003g0192 | 1 | 434 | 0.0023 | 759 | c.843 others(776): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCNN1D_chr1_1275436_1297025 | 1288275 | C | CCGTGTCT others(752): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0281 | 1 | 290 | 0.0035 | 759 | c.166 others(776): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SIMC1_chr5_176233424_176350989 | 176305290 | C | CCAGCCAC others(752): Show |
intron_variant | MODIFIER | NA19007.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226a0001c0001t0001g0235 | 2 | 360 | 0.0056 | 759 | c.173 others(778): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| SLC22A7_chr6_43293260_43310538 | 43294283 | C | CCATCACC others(752): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0018a0001c0003t0001g0022a0001c0003t0001g0046 | 4 | 404 | 0.0099 | 759 | c.-40 others(770): Show |
SLC22A7 | ENSG00000137204.15 | transcript | ENST00000372585.10 | protein_coding | 3976 | chr6 | TogoVar | ||||||
| SLC6A3_chr5_1387794_1450440 | 1414422 | G | GGAGAAGG others(752): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 373 | 0.0027 | 759 | c.115 others(776): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
| SLC9A3_chr5_465456_529449 | 507670 | A | ACAGACGC others(752): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0119 | 1 | 218 | 0.0046 | 759 | c.212 others(778): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
| SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(752): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0106 | 1 | 132 | 0.0076 | 759 | c.227 others(778): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | ||||||
| SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(752): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02135.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0022 | a0001c0001t0003g0099a0002c0002t0022g0038 | 2 | 132 | 0.0152 | 759 | c.227 others(778): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | ||||||
| SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(752): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01993.hp2 HG02027.hp2 others(2): Show |
a0001a0002a0007 | a0001c0003a0001c0048a0001c0059others(2): Show | a0001c0003t0007a0001c0048t0004a0001c0059t0004others(2): Show | a0001c0003t0007g0098a0001c0048t0004g0064a0001c0059t0004g0027others(2): Show | 5 | 132 | 0.0379 | 759 | c.227 others(778): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | ||||||
| SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(752): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 759 | c.*12 others(770): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar | ||||||
| SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(752): Show |
downstream_gene_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0119 | 1 | 422 | 0.0024 | 759 | c.*64 others(770): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | ||||||
| TECTA_chr11_121096243_121196490 | 121185956 | G | GAATGAGT others(752): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0057 | a0001c0057t0001 | a0001c0057t0001g0312 | 1 | 348 | 0.0029 | 759 | c.600 others(778): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| THADA_chr2_43225851_43601038 | 43297822 | G | GGGGGGGT others(752): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0120 | 1 | 206 | 0.0049 | 759 | c.443 others(778): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 31/37 | chr2 | TogoVar | ||||||
| TNS1_chr2_217794791_218007995 | 217805612 | C | CACCACAC others(752): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp2 others(10): Show |
a0001a0003a0008others(1): Show | a0001c0002a0001c0005a0001c0008others(4): Show | a0001c0002t0036a0001c0002t0109a0001c0005t0017others(7): Show | a0001c0002t0036g0241a0001c0002t0109g0242a0001c0005t0017g0196others(10): Show | 13 | 244 | 0.0533 | 759 | c.537 others(778): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 32/32 | chr2 | TogoVar | ||||||
| TSHZ2_chr20_52967358_53500330 | 53204100 | T | TATACTAT others(752): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0087 | 1 | 174 | 0.0058 | 759 | c.41- others(776): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| TSNAXIP1_chr16_67801889_67833068 | 67809198 | G | GGTGGCTC others(752): Show |
intron_variant | MODIFIER | HG01515.hp1 HG03669.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0001g0121 | 3 | 256 | 0.0117 | 759 | c.47+ others(774): Show |
TSNAXIP1 | ENSG00000102904.15 | transcript | ENST00000561639.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| TSNAXIP1_chr16_67801889_67833068 | 67809198 | G | GGTGGCTC others(752): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 256 | 0.0039 | 759 | c.47+ others(774): Show |
TSNAXIP1 | ENSG00000102904.15 | transcript | ENST00000561639.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| TSNAXIP1_chr16_67801889_67833068 | 67809198 | G | GGTGGCTC others(752): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00673.hp2 HG01123.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0114a0001c0001t0001g0116others(11): Show | 15 | 256 | 0.0586 | 759 | c.47+ others(774): Show |
TSNAXIP1 | ENSG00000102904.15 | transcript | ENST00000561639.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(752): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0048 | 2 | 218 | 0.0092 | 759 | c.55+ others(774): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | ||||||
| ZBTB34_chr9_126855639_126890878 | 126876166 | C | CCCCCCTT others(752): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0217 | 1 | 246 | 0.0041 | 759 | c.-10 others(776): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(752): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0025 | 1 | 302 | 0.0033 | 759 | c.-1- others(776): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ABR_chr17_998519_1184981 | 1173311 | C | CCACACAT others(753): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0298 | 1 | 337 | 0.0030 | 760 | c.61+ others(775): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25758600 | T | TCACCTGC others(753): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0052 | a0052c0038 | a0052c0038t0001 | a0052c0038t0001g0251 | 1 | 300 | 0.0033 | 760 | c.654 others(779): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 835481 | T | TGCGTGCA others(753): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 391 | 0.0026 | 760 | c.*36 others(771): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
| CCDC88C_chr14_91266323_91422820 | 91293482 | T | TCACCTTC others(753): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0001 | 2 | 284 | 0.0070 | 760 | c.411 others(777): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
| CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCCGCCA others(753): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0120 | 1 | 284 | 0.0035 | 760 | c.411 others(777): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
| CECR2_chr22_17364460_17563151 | 17432004 | T | TGACATTT others(753): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0168 | 1 | 324 | 0.0031 | 760 | c.127 others(779): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCCCCTC others(753): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0157 | 1 | 270 | 0.0037 | 760 | c.162 others(781): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| COL6A1_chr21_45976770_46010048 | 45988350 | G | GGGGCTCC others(753): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0126 | 1 | 128 | 0.0078 | 760 | c.804 others(775): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(753): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 448 | 0.0022 | 760 | c.51+ others(775): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
| COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(753): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 448 | 0.0022 | 760 | c.51+ others(775): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
| CRLF2_chrX_1185490_1217649 | 1198345 | C | CAGGACAC others(753): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0057 | 1 | 167 | 0.0060 | 760 | c.646 others(775): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAG others(753): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0050 | a0001c0050t0053 | a0001c0050t0053g0120 | 1 | 126 | 0.0079 | 760 | c.415 others(781): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
| CUL4A_chr13_113204613_113272108 | 113232218 | G | GTCACCAC others(753): Show |
intron_variant | MODIFIER | HG01074.hp1 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283a0001c0001t0001g0284 | 2 | 396 | 0.0051 | 760 | c.513 others(775): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15932010 | G | GAATGAGT others(753): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0004 | a0001c0004t0022 | a0001c0004t0022g0049 | 1 | 386 | 0.0026 | 760 | c.198 others(777): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15933132 | A | ATGAGTGA others(753): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0002 | a0001c0002t0143 | a0001c0002t0143g0146 | 1 | 386 | 0.0026 | 760 | c.198 others(777): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15933365 | G | GAGAGGAA others(753): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0001 | a0002c0001t0183 | a0002c0001t0183g0332 | 1 | 386 | 0.0026 | 760 | c.198 others(775): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15933365 | G | GAGAGGAG others(753): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0198 | 1 | 386 | 0.0026 | 760 | c.198 others(775): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(753): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0070 | 1 | 216 | 0.0046 | 760 | c.923 others(779): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 516584 | A | ACAGGGGT others(753): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0085 | 1 | 88 | 0.0114 | 760 | c.86- others(777): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DNAJC4_chr11_64225548_64239281 | 64237126 | G | GAGGGAGA others(753): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 338 | 0.0030 | 760 | c.*29 others(771): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2846 | chr11 | TogoVar | ||||||
| EDEM2_chr20_35110364_35152336 | 35149141 | A | AGGCTTTG others(753): Show |
upstream_gene_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 332 | 0.0030 | 760 | c.-18 others(771): Show |
EDEM2 | ENSG00000088298.13 | transcript | ENST00000374492.8 | protein_coding | 1806 | chr20 | TogoVar | ||||||
| EIPR1_chr2_3183970_3382818 | 3331347 | G | GAGCAGAG others(753): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0219 | 2 | 250 | 0.0080 | 760 | c.259 others(777): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
| EIPR1_chr2_3183970_3382818 | 3331423 | G | GAGCAGAG others(753): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 250 | 0.0040 | 760 | c.259 others(777): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
| F10_chr13_113117799_113154529 | 113151682 | A | AAAGTGAT others(753): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0137 | 1 | 412 | 0.0024 | 760 | c.*21 others(771): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 2154 | chr13 | TogoVar | ||||||
| FMN2_chr1_240086883_240480187 | 240185174 | T | TTCCCCCT others(753): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0006 | a0006c0023 | a0006c0023t0001 | a0006c0023t0001g0078 | 1 | 174 | 0.0058 | 760 | c.193 others(779): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(753): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 230 | 0.0044 | 760 | c.126 others(777): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
| GRIN2A_chr16_9748408_10187428 | 10040002 | C | CACACACA others(753): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0056 | 1 | 168 | 0.0060 | 760 | c.415 others(781): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 2/12 | chr16 | TogoVar |